190 related articles for article (PubMed ID: 38459354)
1. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss.
Redfield SE; De-la-Torre P; Zamani M; Wang H; Khan H; Morris T; Shariati G; Karimi M; Kenna MA; Seo GH; Xu H; Lu W; Naz S; Galehdari H; Indzhykulian AA; Shearer AE; Vona B
Hum Genet; 2024 Mar; 143(3):311-329. PubMed ID: 38459354
[TBL] [Abstract][Full Text] [Related]
2.
Redfield SE; De-la-Torre P; Zamani M; Wang H; Khan H; Morris T; Shariati G; Karimi M; Kenna MA; Seo GH; Xu H; Lu W; Naz S; Galehdari H; Indzhykulian AA; Shearer AE; Vona B
medRxiv; 2023 Dec; ():. PubMed ID: 37873491
[TBL] [Abstract][Full Text] [Related]
3. A conserved function of Pkhd1l1, a mammalian hair cell stereociliary coat protein, in regulating hearing in zebrafish.
Makrogkikas S; Cheng RK; Lu H; Roy S
J Neurogenet; 2023 Sep; 37(3):85-92. PubMed ID: 36960824
[No Abstract] [Full Text] [Related]
4. A novel
Li Q; Liang P; Wang S; Li W; Wang J; Yang Y; An X; Chen J; Zha D
Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846771
[TBL] [Abstract][Full Text] [Related]
5. PKHD1L1 is a coat protein of hair-cell stereocilia and is required for normal hearing.
Wu X; Ivanchenko MV; Al Jandal H; Cicconet M; Indzhykulian AA; Corey DP
Nat Commun; 2019 Aug; 10(1):3801. PubMed ID: 31444330
[TBL] [Abstract][Full Text] [Related]
6. Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals.
Kabahuma RI; Schubert WD; Labuschagne C; Yan D; Pepper MS; Liu XZ
Mol Genet Genomic Med; 2022 Oct; 10(10):e2015. PubMed ID: 36029164
[TBL] [Abstract][Full Text] [Related]
7. Tprn is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice.
Men Y; Li X; Tu H; Zhang A; Fu X; Wang Z; Jin Y; Hou C; Zhang T; Zhang S; Zhou Y; Li B; Li J; Sun X; Wang H; Gao J
Front Med; 2019 Dec; 13(6):690-704. PubMed ID: 30159668
[TBL] [Abstract][Full Text] [Related]
8. Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice.
Chen M; Wang Q; Zhu GH; Hu P; Zhou Y; Wang T; Lai RS; Xiao ZA; Xie DH
Biochem Biophys Res Commun; 2016 Oct; 479(4):703-707. PubMed ID: 27693694
[TBL] [Abstract][Full Text] [Related]
9. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT; Ghaffar A; Rashid M; Hovey LT; Hussain M; Frees K; Renkes EM; Nishimura CJ; Shahzad M; Smith RJ; Ahmed Z; Azaiez H; Riazuddin S
Hum Genet; 2020 Dec; 139(12):1565-1574. PubMed ID: 32562050
[TBL] [Abstract][Full Text] [Related]
10. Identification of Novel
Ramzan K; Al-Numair NS; Al-Ageel S; Elbaik L; Sakati N; Al-Hazzaa SAF; Al-Owain M; Imtiaz F
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33316915
[TBL] [Abstract][Full Text] [Related]
11. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
[TBL] [Abstract][Full Text] [Related]
12. Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I; Grati M; Bademci G; Bensaid M; Ma Q; Chakroun A; Foster J; Yan D; Duman D; Diaz-Horta O; Ghorbel A; Mittal R; Farooq A; Tekin M; Masmoudi S; Liu XZ
Mol Genet Genomics; 2015 Aug; 290(4):1327-34. PubMed ID: 25633957
[TBL] [Abstract][Full Text] [Related]
13. A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
Wang J; Shen J; Guo L; Cheng C; Chai R; Shu Y; Li H
Hear Res; 2019 Aug; 379():79-88. PubMed ID: 31103816
[TBL] [Abstract][Full Text] [Related]
14. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K; Hussain S; Bilal M; Nasir A; Acharya A; Ali RH; Nawaz S; Umair M; Schrauwen I; Ahmad W; Leal SM
J Hum Genet; 2020 Jan; 65(2):187-192. PubMed ID: 31656313
[TBL] [Abstract][Full Text] [Related]
15. A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.
Zhang L; Hu L; Chai Y; Pang X; Yang T; Wu H
Hum Mutat; 2014 Jul; 35(7):814-8. PubMed ID: 24729547
[TBL] [Abstract][Full Text] [Related]
16. Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E; Blair J; Yamamoto N; Diaz-Miranda MA; Bedoukian E; Gray C; Lawrence A; Dedhia K; Elden LM; Germiller JA; Kazahaya K; Sobol SE; Luo M; Krantz ID; Hartman TR
Am J Med Genet A; 2024 May; 194(5):e63530. PubMed ID: 38197511
[TBL] [Abstract][Full Text] [Related]
17. Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss.
Zheng K; Lin S; Gao J; Chen S; Su J; Liu Z; Duan S
BMC Med Genomics; 2024 Jan; 17(1):4. PubMed ID: 38167320
[TBL] [Abstract][Full Text] [Related]
18. EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
Behlouli A; Bonnet C; Abdi S; Bouaita A; Lelli A; Hardelin JP; Schietroma C; Rous Y; Louha M; Cheknane A; Lebdi H; Boudjelida K; Makrelouf M; Zenati A; Petit C
Orphanet J Rare Dis; 2014 Apr; 9():55. PubMed ID: 24741995
[TBL] [Abstract][Full Text] [Related]
19. A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.
Koohiyan M; Noori-Daloii MR; Hashemzadeh-Chaleshtori M; Salehi M; Abtahi H; Tabatabaiefar MA
Audiol Neurootol; 2019; 24(5):258-263. PubMed ID: 31661684
[TBL] [Abstract][Full Text] [Related]
20. A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family.
Doll J; Hofrichter MAH; Bahena P; Heihoff A; Segebarth D; Müller T; Dittrich M; Haaf T; Vona B
Mol Genet Genomic Med; 2020 Aug; 8(8):e1343. PubMed ID: 32519820
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]